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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

JUP Gene

protein-coding   GIFtS: 70
GCID: GC17M039776

Junction Plakoglobin

(Previous names: catenin (cadherin-associated protein), gamma 80kDa)
(Previous symbol: CTNNG)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Junction Plakoglobin1 2     PDGB2 5
CTNNG1 2 3     DPIII2
DP32 3 5     PKGB2
Catenin (Cadherin-Associated Protein), Gamma 80kDa1 2     desmoplakin-32
Desmoplakin III2 3     Desmoplakin-33
ARVD122 5     Catenin Gamma3

External Ids:    HGNC: 62071   Entrez Gene: 37282   Ensembl: ENSG000001738017   OMIM: 1733255   UniProtKB: P149233   

Export aliases for JUP gene to outside databases

Previous GC identifers: GC17M039465 GC17M041960 GC17M039820 GC17M040284 GC17M037164 GC17M039910 GC17M035672


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for JUP Gene:
This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques
of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and
desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid
motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative
splicing occurs in this gene; however, not all transcripts have been fully described. (provided by RefSeq, Jul
2008)

GeneCards Summary for JUP Gene: 
JUP (junction plakoglobin) is a protein-coding gene. Diseases associated with JUP include naxos disease, and sarcomatoid renal cell carcinoma, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and Cell-cell junction organization. GO annotations related to this gene include transcription coactivator activity and protein homodimerization activity. An important paralog of this gene is CTNNB1.

UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923
Function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an
important strategic position to influence the arrangement and function of both the cytoskeleton and the cells
within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests
that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for
VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in
E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By
similarity)

Gene Wiki entry for JUP (Plakoglobin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the JUP gene promoter:
         AREB6   E2F-1   E2F   p53   HOXA5   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidJUP promoter sequence
   Search SABiosciences Chromatin IP Primers for JUP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat JUP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21

JUP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
JUP gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M039776:  view genomic region     (about GC identifiers)

Start:
39,775,692 bp from pter      End:
39,943,183 bp from pter
Size:
167,492 bases      Orientation:
minus strand

1 alternative location:
Chr17-,NW_003571052 41,249-73,354     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923 (See protein sequence)
Recommended Name: Junction plakoglobin  
Size: 745 amino acids; 81745 Da
Subunit: Homodimer. Component of an E-cadherin/ catenin adhesion complex composed of at least E-cadherin/CDH1 and
gamma-catenin/JUP, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable
association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex.
Interacts with MUC1. Interacts with CAV1 (By similarity). Interacts with PTPRJ. Interacts with DSG1. Interacts
with DSC1 and DSC2. Interacts with PKP2
Subcellular location: Cell junction, adherens junction. Cell junction, desmosome. Cytoplasm, cytoskeleton.
Membrane; Peripheral membrane protein. Note=Cytoplasmic in a soluble and membrane-associated form
Sequence caution: Sequence=AAH00441.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for JUP:
3IFQ (3D)    
Secondary accessions: Q15093 Q15151 Q7L3S5 Q86W21 Q9BWC4 Q9HCX9

Explore the universe of human proteins at neXtProt for JUP: NX_P14923

Explore proteomics data for JUP at MOPED 

Post-translational modifications:

  • UniProtKB: May be phosphorylated by FER
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14923

  • JUP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    JUP Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002221.1  NP_068831.1  

    ENSEMBL proteins: 
     ENSP00000377507   ENSP00000311113   ENSP00000377508   ENSP00000389886   ENSP00000394146  
     ENSP00000411449   ENSP00000401034   ENSP00000468347   ENSP00000409948   ENSP00000467065  
     ENSP00000441751  
    Reactome Protein details: P14923
    Human Recombinant Protein Products for JUP: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for JUP
    OriGene Protein Over-expression Lysate for JUP
    OriGene MassSpec for JUP 
    OriGene Custom Protein Services for JUP
    GenScript Custom Purified and Recombinant Proteins Services for JUP
    Novus Biologicals JUP Protein
    Novus Biologicals JUP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for JUP 

    Gene Ontology (GO): 5/25 cellular component terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IMP14661054
    GO:0005667NOT transcription factor complex IKR--
    GO:0005737cytoplasm IMP14661054
    GO:0005829cytosol ISS--
    GO:0005856cytoskeleton ISS--

    JUP for ontologies           About GeneDecksing



    JUP Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of JUP
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for JUP  (desmoplakin 3)
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    Novus Biologicals JUP Antibodies
    Abcam antibodies for JUP
    Cloud-Clone Corp. Antibodies for JUP 
    ThermoFisher Antibody for JUP
    LSBio Antibodies in human, mouse, rat for JUP 

    Assay Products for JUP: 
    EMD Millipore Kits and Assays for the Analysis of JUP
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    GenScript Custom Assay Services for JUP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for JUP 
    Cloud-Clone Corp. CLIAs for JUP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ARMC: Armadillo repeat containing

    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR013284 Beta-catenin
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry P14923

    ProtoNet protein and cluster: P14923

    2 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB000357 HEAT repeat


    UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923
    Domain: the whole ARM repeats region mediate binding to CDH1/E-cadherin
    Similarity: Belongs to the beta-catenin family
    Similarity: Contains 12 ARM repeats


    JUP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PLAK_HUMAN, P14923
    Function: Common junctional plaque protein. The membrane-associated plaques are architectural elements in an
    important strategic position to influence the arrangement and function of both the cytoskeleton and the cells
    within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests
    that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for
    VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in
    E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By
    similarity)

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA14661054
    GO:0005198structural molecule activity NAS--
    GO:0005199structural constituent of cell wall IC7650039
    GO:0005488binding ----
    GO:0005515protein binding IPI10801826
         
    JUP for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for JUP:
     Decreased cell spreading 

         12 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Jup):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  muscle 
     nervous system  respiratory system 

    JUP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for JUP: Juptm1Kem Juptm1.2Glr Juptm1Ruiz

       inGenious Targeting Laboratory - Custom generated mouse model solutions for JUP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for JUP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for JUP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for JUP 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat JUP
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate JUP (see all 15):
    hsa-miR-601 hsa-miR-548d-3p hsa-miR-300 hsa-miR-1914* hsa-miR-381 hsa-miR-133b hsa-miR-548aa hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidJUP 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of JUP

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): JUP (NM_021991)
    Sino Biological Human cDNA Clone for JUP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for JUP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat JUP
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for JUP


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for JUP About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Arrhythmogenic right ventricular cardiomyopathy0.53
    2Cell-cell junction organization
    Cell-cell junction organization0.69
    Cell-Cell communication0.64
    Cell junction organization0.69
    Adherens junctions interactions0.51
    3Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    4Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Endothelial cell contacts by junctional mechanisms0.97
    5Cell adhesion Cadherin-mediated cell adhesion
    Cell adhesion Cadherin-mediated cell adhesion1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for JUP
        Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Cadherin-mediated cell adhesion
    Cell adhesion Endothelial cell contacts by non-junctional mechanisms

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for JUP
        Sertoli-Sertoli Cell Junction Dynamics
    Internalin Pathway
    Germ Cell-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions

    1 Cell Signaling Technology (CST) Pathway for JUP
        Adhesion

    3 GeneGo (Thomson Reuters) Pathways for JUP
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cell adhesion Endothelial cell contacts by junctional mechanisms
    Cell adhesion Cadherin-mediated cell adhesion

    4 BioSystems Pathways for JUP
        Wnt Signaling Pathway NetPath
    Arrhythmogenic right ventricular cardiomyopathy
    E-cadherin signaling in the nascent adherens junction
    Arf6 trafficking events


    4        Reactome Pathways for JUP
        Adherens junctions interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization

    1 PharmGKB Pathway for JUP
        Antiarrhythmic Pathway, Pharmacodynamics

    4         Kegg Pathways  (Kegg details for JUP):
        Pathways in cancer
    Transcriptional misregulation in cancer
    Acute myeloid leukemia
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)


    JUP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for JUP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/157 Interacting proteins for JUP (P149231, 2, 3 ENSP000003111134) via UniProtKB, MINT, STRING, and/or I2D (see all 157)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKBIEO002212, 3, ENSP000002750154MINT-67718 I2D: score=4 STRING: ENSP00000275015
    PSEN1P497681, 3, ENSP000003263664EBI-702484,EBI-297277 I2D: score=3 STRING: ENSP00000326366
    PECAM1P162841, 3EBI-702484,EBI-716404 I2D: score=3 
    ZFYVE9O954052, 3MINT-62056 I2D: score=3 
    WDYHV1Q96HA81, 2, 3, ENSP000002873874EBI-702484,EBI-741158 MINT-66801 I2D: score=5 STRING: ENSP00000287387
    About this table

    Gene Ontology (GO): 5/36 biological process terms (GO ID links to tree view) (see all 36):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122NOT negative regulation of transcription from RNA polymerase II promoter IKR--
    GO:0000902cell morphogenesis IBA--
    GO:0002009morphogenesis of an epithelium ----
    GO:0002159desmosome assembly IDA--
    GO:0003136negative regulation of heart induction by canonical Wnt receptor signaling pathway IBA--

    JUP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    JUP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for JUP (PLAK)

    10/20 Novoseek inferred chemical compound relationships for JUP gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aza-2'deoxycytidine 51.5 10 16887905 (2), 14562048 (1), 16537559 (1), 18974268 (1) (see all 5)
    alpha e 50.5 1 12454392 (1)
    tyrosine 48.5 70 11710913 (6), 11371122 (5), 14517306 (4), 11777936 (3) (see all 31)
    phosphotyrosine 33.9 2 9378757 (1)
    ryanodine 11.3 3 11716909 (1), 19205777 (1)
    phalloidin 8.32 1 10075198 (1)
    estrogen 5.22 1 17575143 (1)
    vegf 4.69 6 16149139 (2), 19015309 (1), 9625748 (1), 15306099 (1) (see all 5)
    p002 3.7 2 15916880 (1), 16445817 (1)
    oligonucleotide 0 4 9476558 (2)

    Search CenterWatch for drugs/clinical trials and news about JUP / PLAK

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for JUP gene (2 alternative transcripts): 
    NM_002230.2  NM_021991.2  

    Unigene Cluster for JUP:

    Junction plakoglobin
    Hs.514174  [show with all ESTs]
    Unigene Representative Sequence: BX648177
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393930(uc002hxq.2) ENST00000310706(uc010wfs.2 uc002hxr.2)
    ENST00000393931(uc002hxs.2) ENST00000585793 ENST00000449889 ENST00000437187
    ENST00000420370 ENST00000424457 ENST00000591690 ENST00000437369 ENST00000589036
    ENST00000465293 ENST00000540235
    miRNA
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    hsa-miR-601 hsa-miR-548d-3p hsa-miR-300 hsa-miR-1914* hsa-miR-381 hsa-miR-133b hsa-miR-548aa hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidJUP 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat JUP

    Additional mRNA sequence: 

    AK226051.1 AY243535.1 BC000441.2 BX648177.1 M23410.1 Z68228.1 

    20 DOTS entries:

    DT.316762  DT.95310616  DT.92451789  DT.95353325  DT.95148127  DT.95222134  DT.100797771  DT.97862399 
    DT.100797760  DT.100038510  DT.100797766  DT.92451794  DT.95142885  DT.95329446  DT.99945191  DT.100797763 
    DT.120971183  DT.40133252  DT.87014380  DT.92451791 

    24/610 AceView cDNA sequences (see all 610):

    BQ691016 BQ687678 CA489074 BQ691650 BQ690280 AA610184 BM788177 CA488954 
    CF125737 AL555805 BU163470 BQ420516 BF917930 BU174496 BU179350 BU526474 
    BE902339 AW874432 AA777981 BQ268357 BM781926 BG830628 BU150103 BQ688173 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for JUP (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^
    SP1:                                -     -     -     -     -     -     -           -                                                                           
    SP2:        -     -     -     -     -     -     -     -     -     -     -           -                                                                           
    SP3:                                                                                                                                                            
    SP4:                                -     -     -     -     -     -     -           -                       -     -     -     -     -                           
    SP5:                                                                                -                                                                           

    ExUns: 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                    -                                 
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for JUP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    JUP expression in normal human tissues (normalized intensities)      JUP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGGGGGG
    JUP Expression
    About this image


    JUP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/32 selected tissues (see all 32) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Septum   
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Granular Keratinocytes Stratified Epidermis
             Stratified Epidermis
             Human EpiDermal Keratinocytes (HEK)   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 4 entries
             Human Oral Keritinocytes (HOK)   
             Tongue   
     
     Nose (Sensory Organs)    fully expand to see all 4 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose/nasal cavity   

    See JUP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for JUP

    SOURCE GeneReport for Unigene cluster: Hs.514174
        SABiosciences Expression via Pathway-Focused PCR Arrays including JUP: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for JUP gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Jup1 , 5 junction plakoglobin1, 5 89.62(n)1
    98.39(a)1
      11 (63.47 cM)5
    164801  NM_010593.21  NP_034723.11 
     1003689585 
    chicken
    (Gallus gallus)
    Aves JUP1 junction plakoglobin 85.16(n)
    90.28(a)
      429710  XM_003642829.1  XP_003642877.1 
    lizard
    (Anolis carolinensis)
    Reptilia JUP6
    Uncharacterized protein
    87(a)
    1 ↔ 1
    6(71138167-71214877)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.28442 Xenopus laevis plakoglobin mRNA, complete cds 77(n)    M95593.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003308861 junction plakoglobin-like 71.67(n)
    74.57(a)
      100330886  XM_002665476.2  XP_002665522.2 
    worm
    (Caenorhabditis elegans)
    Secernentea hmp-23 Armadillo/beta-catenin-like repeats (4
    domains)
    34(a)
    (best of 2)
      I(14747632-14750563)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VAC86
    Phosphorylated and palmitoylated vacuolar membrane...
    12(a)
    1 → many
    V(128825-130561)


    ENSEMBL Gene Tree for JUP (if available)
    TreeFam Gene Tree for JUP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for JUP gene
    CTNNB12  
    18/43 SIMAP similar genes for JUP using alignment to 9 protein entries:     PLAK_HUMAN (see all proteins) (see all similar genes):
    GUCA1B    keratin    KRT16    KRT15    KRT13    KRT10
    type I hair keratin    K14    KRT17    KRT14    KRT33A    KRT19
    KRT20    KRT9    KRT12    KRT34    KRT37    KRTHA7

    JUP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/921 SNPs in JUP are shown (see all 921)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0656984
    Familial arrhythmogenic right ventricular dysplasia 12 (ARVD12)4--see VAR_0656982 T I mis40--------
    rs11268211,2,4
    C,F,Hnon-pathogenic140700954(-) CAGACT/ATGGAT 4 /M /L mis119Minor allele frequency- A:0.32NS EA NA WA CSA EU 6471
    rs22304071,2
    C,F,Hnon-pathogenic140712483(-) ACCACC/G/TGACTG 4 T syn113NA NS CSA WA EU 7084
    rs1167725231,2
    C,Funknown140702859(+) GAGGGG/AACGTG 2 -- int11Minor allele frequency- A:0.08WA 118
    rs1939227051,2
    C,Funknown140712435(-) GTGGGC/TCCTCC 2 -- int11Minor allele frequency- T:0.01EU 1011
    rs1410100711,2
    C--39912259(+) CCTGA-/CCCCCT 2 -- int10--------
    rs603469851,2
    C--39920786(+) GTCAGGAAA/-  
            
    AAAAA
    2 -- int11Minor allele frequency- -:0.00NA 2
    rs3744662471,2
    C--39924656(+) AAAAC-/AAAAAAA 2 -- int10--------
    rs114273311,2
    C--39926159(+) GGGAA-/T/TT  
            
    TTTTT
    2 -- int1 trp31CSA 2
    rs353369121,2
    C--39934811(+) ATCTC-/AAAAAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for JUP (39775692 - 39943183 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for JUP:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3168n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): JUP

    Locus Specific Mutation Databases (LSDB): JUP
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 173325   
    OMIM disorders: 601214  611528  
    UniProtKB/Swiss-Prot: PLAK_HUMAN, P14923
  • Naxos disease (NXD) [MIM:601214]: An autosomal recessive disorder characterized by the association of
    diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated
    cardiomyopathy and arrhythmogenic right ventricular dysplasia. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Familial arrhythmogenic right ventricular dysplasia 12 (ARVD12) [MIM:611528]: A congenital heart disease
    characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial
    cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/80 diseases for JUP (see all 80):    About MalaCards
    naxos disease    sarcomatoid renal cell carcinoma    breast cancer, lobular    arrhythmogenic right ventricular dysplasia, familial, 12
    arrhythmogenic right ventricular dysplasia/cardiomyopathy12    pemphigus vulgaris    hailey-hailey disease    colonic polyps
    paraneoplastic pemphigus    epithelioid sarcoma    embryonal rhabdomyosarcoma    arrhythmogenic right ventricular dysplasia
    bladder carcinoma    keratoderma    leopard syndrome    pemphigus
    chordoma    palmoplantar keratosis    prolactinoma    autosomal dominant disease

    3 diseases from the University of Copenhagen DISEASES database for JUP:
    Arrhythmogenic right ventricular dysplasia     Keratosis     Hailey-Hailey disease

    JUP for disorders           About GeneDecksing

    10/95 Novoseek inferred disease relationships for JUP gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    naxos disease 89.6 15 15851108 (3), 10902626 (2), 11691526 (2), 16096717 (1) (see all 11)
    carvajal syndrome 82.8 1 19558499 (1)
    arrhythmogenic right ventricular dysplasia 81.9 15 16893920 (2), 10902626 (1), 20130592 (1), 17413274 (1) (see all 12)
    acantholysis 77.2 5 11553312 (2), 11125324 (1), 12358812 (1), 11334462 (1)
    pemphigus vulgaris 75.3 12 9521500 (3), 12358812 (3), 11125324 (1), 7738346 (1) (see all 8)
    keratoderma palmoplantar 72.7 8 10902626 (2), 17045679 (2), 18957847 (1), 16414451 (1) (see all 6)
    hailey-hailey disease 62.2 4 9521500 (3), 1419753 (1)
    pemphigus 62 4 10427986 (1), 1419753 (1), 11251577 (1)
    familial adenomatous polyposis 60.3 7 10408833 (1), 10207085 (1), 11407474 (1), 10996845 (1) (see all 7)
    darier disease 58.9 5 9521500 (3), 7537767 (1), 1419753 (1)

    GeneTests: JUP
    GeneReviews: JUP
    Genetic Association Database (GAD): JUP
    Human Genome Epidemiology (HuGE) Navigator: JUP (4 documents)

    Export disorders for JUP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for JUP gene, integrated from 9 sources (see all 645):
    (articles sorted by number of sources associating them with JUP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)1, 2, 4, 9 den Haan A.D....Judge D.P. (2009)
    2. Tyrosine phosphorylation of plakoglobin causes contrary effects on its association with desmosomes and adherens junction components and modulates beta-catenin-mediated transcription. (PubMed id 14517306)1, 2, 9 Miravet S....Garcia de Herreros A. (2003)
    3. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. (PubMed id 17924338)1, 2, 9 Asimaki A....McKenna W.J. (2007)
    4. Chromosomal assignment of the human genes coding for the major proteins of the desmosome junction, desmoglein DGI (DSG), desmocollins DGII/III (DSC), desmoplakins DPI/II (DSP), and plakoglobin DPIII (JUP). (PubMed id 1889810)1, 3, 9 Arnemann J....Buxton R.S. (1991)
    5. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). (PubMed id 10902626)1, 2, 9 McKoy G....McKenna W.J. (2000)
    6. The human plakoglobin gene localizes on chromosome 17 q21 and is subjected to loss of heterozygosity in breast and ovarian cancers. (PubMed id 7604000)1, 3, 9 Aberle H....Lynch H.T. (1995)
    7. Genomic organization and amplification of the human plakoglobin gene (JUP). (PubMed id 11016852)1, 2, 9 Whittock N.V.... McGrath J.A. (2000)
    8. Lower than expected desmosomal gene mutation prevalen ce in endurance athletes with complex ventricular arrhythmias of right ventricu lar origin. (PubMed id 20525856)1, 4 La Gerche A....HeidbA1chel H. (2010)
    9. Desmosomal gene analysis in arrhythmogenic right vent ricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. (PubMed id 20400443)1, 4 Fressart V....Charron P. (2010)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3728 HGNC: 6207 AceView: JUP Ensembl:ENSG00000173801 euGenes: HUgn3728
    ECgene: JUP Kegg: 3728 H-InvDB: JUP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for JUP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for JUP Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/JUP

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for JUP gene:
    Search GeneIP for patents involving JUP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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